Washington, November 12 (ANI) Scientists have identified a new gene identification technique that could increase the genetic information we hold on animals by around 70 to 80 per cent. The findings could revolutionise our understanding of animal genetics and disease, and improve our knowledge of dangerous viruses such as SARS that jump the species barrier from animals to humans. Modern advances in genome sequencing - the process of determining the genetic information and variation controlling everything from our eye colour to our vulnerability to certain diseases - has enabled scientists to uncover the genetic codes of a wide range of animals, plants and insects. Until now, correctly identifying the genes and proteins hidden inside the genetic material of a newly sequenced species has been a monumental undertaking requiring the careful observation and cataloguing of vast amounts of data about the thousands of individual genes that make up any given animal, plant or insect. "Gene identification is mainly led by computer programmes which search the genome for regions that look like genes already identified in other animals or humans. However, this type of analysis is not always effective," said Dr David Matthews, the study's lead author and a Senior Lecturer in … Continue reading →

ScienceDaily (Nov. 11, 2012) A recent finding by medical geneticists sheds new light on how Facioscapulohumeral Muscular Dystrophy develops and how it might be treated. More commonly known as FSHD, the devastating disease affects both men and women. FSHD is usually an inherited genetic disorder, yet sometimes appears spontaneously via new mutations in individuals with no family history of the condition. "People with the condition experience progressive muscle weakness and about 1 in 5 require wheelchair assistance by age 40," said Dr. Daniel G. Miller, University of Washington associate professor of pediatrics in the Division of Genetic Medicine. Miller and his worldwide collaborators study the molecular events leading to symptoms of FSHD in the hopes of designing therapies to prevent the emergence of symptoms or reduce their severity. In the Nov. 11 online issue of Nature Genetics, Miller and Dr. Silvere M. van der Maarel of Leiden University in The Netherlands, along with an international team, report their latest findings on the role of epigenetic modifications in causing the disease. In Seattle, Dr. Stephen Tapscott of the Fred Hutchinson Cancer Research Center was also a major contributor to the project. He is a UW professor of neurology and a researcher … Continue reading →

Public release date: 11-Nov-2012 [ | E-mail | Share ] Contact: Karin Eskenazi ket2116@columbia.edu 212-342-0508 Columbia University Medical Center New York, NY (November 11, 2012) Although schizophrenia is highly genetic in origin, the genes involved in the disorder have been difficult to identify. In the past few years, researchers have implicated several genes, but it is unclear how they act to produce the disorder. A new study by researchers at Columbia University Medical Center identifies affected gene networks and provides insight into the molecular causes of the disease. The paper was published today in the online edition of the journal Nature Neuroscience. Using an unbiased collection of hundreds of mutations associated with schizophrenia, the Columbia researchers applied a sophisticated computational approach to uncover hidden relationships among seemingly unrelated genes. The analysis revealed that many of the genes mutated in schizophrenia are organized into two main networks, which take part in a few key processes, including axon guidance, synapse function, neuron mobility, and chromosomal modification. The study also uncovered an intriguing connection between schizophrenia and autism. "If we hadn't known that these were two different diseases, and had put all the mutations into a single analysis, it would have come up … Continue reading →

Public release date: 12-Nov-2012 [ | E-mail | Share ] Contact: Sarah Avery sarah.avery@duke.edu 919-660-1306 Duke University Medical Center DURHAM, N.C. In the first broad genetic landscape mapped of a Burkitt lymphoma tumor, scientists at Duke Medicine and their collaborators identified 70 mutations, including several that had not previously been associated with cancer and a new one that was unique to the disease. Findings from the genetic sequencing of Burkitt lymphoma, an aggressive form of lymphoma, could be used to develop new drugs or aim existing therapies at mutations known to be susceptible. The researchers published their findings online Sunday, Nov. 11, 2012, in the journal Nature Genetics. "This study lays out the most common genetic alterations in the disease, and allows us to understand the biology of the disease so we can design better therapies," said Sandeep S. Dave, M.D., MBA, MS, associate professor at Duke and senior author of the study. Dave and colleagues sequenced the first complete Burkitt lymphoma genome, plus the genes from 59 additional Burkitt cases and 94 diffuse large B cell lymphomas, which share many of the same characteristics of Burkitt lymphoma. Similarities between the malignancies can often lead to mistaken diagnoses and failed … Continue reading →

The Institute of Medicine of the National Academy of Sciences has elected 70 new members including Lynda Chin, Stephen Quake, and Daniel Kastner. Chin is currently a professor and chair of genomic medicine and scientific director of the Institute for Applied Cancer Science at the University of Texas MD Anderson Cancer Center. Quake is a professor of bioengineering at Stanford University and an investigator at the Howard Hughes Medical Institute. Kastner is the scientific director of the National Human Genome Research Institute, where, among other duties, he leads the inflammatory disease section of the medical genetics branch. Caprotec Bioanalytics has appointed Jonathan Turner to be CEO and managing director. Turner will take over the CEO spot from company founder Hubert Koester, who will continue to work with the company as acting chief scientific officer and chairman of the scientific advisory board. Turner formerly was senior VP at XL Techgroup, a technology developer and equity firm, and he held senior management posts at Boehringer Ingelheim, Astrazeneca, and Schering. Bill Bowen has been appointed by Sequenom SVP and general counsel. He will report directly to Chairman and CEO Harry Hixson and will be responsible for the company's legal and patent issues. Bowen … Continue reading →

Public release date: 12-Nov-2012 [ | E-mail | Share ] Contact: Cristina Mestre MestreCA@upmc.edu 412-586-9776 University of Pittsburgh Schools of the Health Sciences PITTSBURGH, Nov. 12, 2012 A new study published online today in Nature Genetics reveals a genetic link between chronic pancreatitis and alcohol consumption. Researchers from the University of Pittsburgh School of Medicine and more than 25 other health centers across the United States found a genetic variant on chromosome X near the claudin-2 gene (CLDN2) that predicts which men who are heavy drinkers are at high risk of developing chronic pancreatitis. This finding enables doctors to identify people with early signs of pancreatitis or an attack of acute pancreatitis who are at very high risk for progressing to chronic pancreatitis, allowing them to take preventative action to slow the development of the disease, and give the pancreas a chance to heal. Once an individual develops pancreatitis it takes several years for the pancreas to deteriorate. "The discovery that chronic pancreatitis has a genetic basis solves a major mystery about why some people develop chronic pancreatitis and others do not," said David C. Whitcomb, M.D., professor of medicine, cell biology and physiology, and human genetics at the University … Continue reading →